esv3325293
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Fail
- Clinical Assertions: No
- Region Size:384,993
- Publication(s):1000 Genomes Project Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 901 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 901 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3325293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 30,259,579 (-95, +75) | 30,644,571 (-102, +88) |
| esv3325293 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 30,732,426 (-95, +75) | 31,117,418 (-102, +88) |
| esv3325293 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 30,505,013 (-95, +75) | 30,890,005 (-102, +88) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8726181 | deletion | SAMN00801914 | Sequencing | Paired-end mapping | 26,039 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8726181 | Remapped | Perfect | NC_000001.11:g.(30 259484_30259654)_( 30644469_30644659) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 30,259,579 (-95, +75) | 30,644,571 (-102, +88) |
| essv8726181 | Remapped | Perfect | NC_000001.10:g.(30 732331_30732501)_( 31117316_31117506) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 30,732,426 (-95, +75) | 31,117,418 (-102, +88) |
| essv8726181 | Submitted genomic | NC_000001.9:g.(305 04918_30505088)_(3 0889903_30890093)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 30,505,013 (-95, +75) | 30,890,005 (-102, +88) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8726181 | 18 | SAMN00801914 | Oligo aCGH | Probe signal intensity | Fail |